UBR1 (ubiquitin protein ligase E3 component n-recognin 1)

2015-11-01  

Identity

HGNC
UBR1
LOCATION
15q15.2
LOCUSID
197131
ALIAS
JBS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 197131
MIM: 605981
HGNC: 16808
Ensembl: ENSG00000159459

Variants:

dbSNP: 197131
ClinVar: 197131
TCGA: ENSG00000159459
COSMIC: UBR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159459ENST00000290650Q8IWV7
ENSG00000159459ENST00000546274A0A087WTJ9
ENSG00000159459ENST00000563239H3BS20
ENSG00000159459ENST00000564540H3BUZ4
ENSG00000159459ENST00000569066A0A0C4DGM0
ENSG00000159459ENST00000569243H3BUC4
ENSG00000159459ENST00000569337H3BNQ6
ENSG00000159459ENST00000569971H3BQF8
ENSG00000159459ENST00000627960H3BNQ6

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
370573452023Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.2
370573452023Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.2
352336802022Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress.5
352336802022Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress.5
291786402017Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.5
291786402017Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.5
273977332016Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.1
273977332016Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.1
261839282015Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.1
261839282015Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.1
245995442014Mutations in the human UBR1 gene and the associated phenotypic spectrum.12
245995442014Mutations in the human UBR1 gene and the associated phenotypic spectrum.12
217112082012Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.1
217112082012Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.1
205564232011Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.5

Citation

Dessen P

UBR1 (ubiquitin protein ligase E3 component n-recognin 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55519